Q28H (p.Gln28His) variant of RHO (Rhodopsin)
Q28H (p.Gln28His) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
Q28H (p.Gln28His) variant details
- p.Gln28His
- rs2108749184
- ClinGen CA354495588
- ClinVar RCV001699940
- UniProt VAR 004770
- Pathogenic
- Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.90
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic (Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)